نتایج جستجو برای: inherited neurodevelopmental disease
تعداد نتایج: 1517926 فیلتر نتایج به سال:
Dowling –Degos disease is a rare condition. It is inherited by an autosomal dominant gene. It usually presents in adult life as small, pigmented, asymptomatic macules in flexural regions. We report a 35-year-old woman with Dowling- Degos disease, in whom the reticular pigmentation confined to the genital area.
Anderson-Fabry disease is a rare inherited X-linked lysosomal storage disease caused by deficiency of the enzyme alpha-galactosidase A. Hereby we report a 39 year old male that presented with proteinuria and edema. Histopathologic, immunofluorescence and ultrastractural examination of renal tissue were in favor of Fabry disease in associate with IgA nephropathy. Fabry's disease associated ...
BACKGROUND Microdeletions of 2q23.1 disrupting MBD5 and loss of function mutations of MBD5 cause MBD5-Associated Neurodevelopmental disorders (MAND). Nearly all reported patients have been isolated cases of de novo origin. METHODS This study investigates three families with inherited MBD5 mutations from three different Regional Genetics Centres in the UK. RESULTS Two of the parents in the s...
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